Linked Data
ClinVar Variation Id:
2944060
ClinVar RCV Id:
RCV003805810
dbSNP Id:
rs749262817
ExAC:
2:32475038 C / T
gnomAD v2:
2-32475038-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32249969C>T , CM000664.2:g.32249969C>T | GRCh38 |
| NC_000002.11:g.32475038C>T , CM000664.1:g.32475038C>T | GRCh37 |
| NC_000002.10:g.32328542C>T | NCBI36 |
| NG_041780.1:g.20775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652197.2:c.-76+6806G>A | ENSP00000498301.2:n.-76+6806G>A | |
| ENST00000402280.6:c.1895G>A MANE Select | ENSP00000385428.1:p.Gly632Asp | |
| ENST00000404025.3:c.1895G>A | ENSP00000385090.3:p.Gly632Asp | |
| ENST00000652197.1:c.1895G>A | ENSP00000498301.1:p.Gly632Asp | |
| ENST00000342905.10:c.262+2450G>A | ENSP00000339666.6:n.262+2450G>A | |
| ENST00000360906.9:c.1895G>A | ENSP00000354159.5:p.Gly632Asp | |
| ENST00000402280.5:c.1895G>A | ENSP00000385428.1:p.Gly632Asp | |
| ENST00000404025.2:c.1895G>A | ENSP00000385090.2:p.Gly632Asp | |
| NM_001199138.1:c.1895G>A | NP_001186067.1:p.Gly632Asp | |
| NM_001199139.1:c.1895G>A | NP_001186068.1:p.Gly632Asp | |
| NM_001302504.1:c.262+2450G>A | NP_001289433.1:n.262+2450G>A | |
| NM_021209.4:c.1895G>A | NP_067032.3:p.Gly632Asp | |
| XM_011533008.1:c.1895G>A | XP_011531310.1:p.Gly632Asp | |
| XM_017004619.1:c.1895G>A | XP_016860108.1:p.Gly632Asp | |
| XR_001738872.1:n.2156G>A | ||
| NM_001199138.2:c.1895G>A MANE Select | NP_001186067.1:p.Gly632Asp |